Editors' ChoiceDevelopment

MAPK Signaling 1: Development

Science's STKE  07 Mar 2006:
Vol. 2006, Issue 325, pp. tw89
DOI: 10.1126/stke.3252006tw89

Cardio-facio-cutaneous (CFC) syndrome is a rare disorder characterized by a distinctive facial appearance, skin abnormalities, heart defects, and growth delays. Rodriguez-Viciana et al. show that the disorder is caused by acquired mutations in genes encoding components of the mitogen-activated protein kinase (MAPK) signaling pathway. About 90% of the 23 patients studied carried missense mutations in the BRAF, MEK1, or MEK2 genes that functionally altered the corresponding proteins. This discovery highlights the critical role of the MAPK pathway in human development and provides a tool for molecular diagnosis of CFC syndrome.

P. Rodriguez-Viciana, O. Tetsu, W. E. Tidyman, A. L. Estep, B. A. Conger, M. Santa Cruz, F. McCormick, K. A. Rauen, Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311, 1287-1290 (2006). [Abstract] [Full Text]